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"results": [
{
"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 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 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 72 with autoinflammation and lymphoproliferation.",
"acronym": "IMD72.",
"accession": "DI-05896",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive immunologic disorder characterized by onset in the first year of life, recurrent bacterial and viral skin infections, severe respiratory tract infections leading to pneumonia and bronchiectasis, and poor specific antibody responses. Patients also exhibit atopic and inflammatory disease alongside chronic hepatosplenomegaly, lymphoproliferation and lymphadenopathy, and autoimmune manifestations. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 73A with defective neutrophil chemotaxis and leukocytosis.",
"acronym": "IMD73A.",
"accession": "DI-02051",
"synonyms": "Neutrophil immunodeficiency syndrome.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal dominant immunologic disorder characterized by onset of recurrent infections in early infancy, leukocytosis, neutrophilia, invasive infections, and poor wound healing. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia.",
"acronym": "IMD73B.",
"accession": "DI-05898",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal dominant immunologic disorder characterized by respiratory infections, cellulitis, severe invasive infections, B- and T-cell lymphopenia, and impaired neutrophil chemotaxis. Disease onset is in infancy or early childhood. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia.",
"acronym": "IMD73C.",
"accession": "DI-05899",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive immunologic disorder characterized by recurrent respiratory infections, decreased B cells, hypogammaglobulinemia, and impaired neutrophil chemotaxis. Variable features are urticaria, recurrent erythematous plaques, food allergy, arthralgia, bronchiectasis, and lymphadenopathy. In addition, patients suffer from glomerulonephritis, coagulopathy, multiple hormone deficiencies, and abnormalities of neutrophil granules. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 74, COVID19-related, X-linked.",
"acronym": "IMD74.",
"accession": "DI-05889",
"synonyms": "Respiratory insufficiency due to SARS-CoV-2 viral infection.; TLR7 deficiency.; ",
"cross_references": "MeSH; D007153.",
"definition": "An X-linked recessive immunologic disorder characterized by impaired type I and type II interferon responses due to defective TLR7 signaling. Individuals with TLR7 deficiency develop severe respiratory insufficiency in response to infection with SARS-CoV-2 coronavirus. Death from respiratory failure may occur. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 75 with lymphoproliferation.",
"acronym": "IMD75.",
"accession": "DI-05992",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive immunologic disorder characterized by recurrent infections, mainly viral and affecting the respiratory tract, immunodeficieny, immune dysregulation, and the development of lymphoproliferative disorders, including lymphoma. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 76.",
"acronym": "IMD76.",
"accession": "DI-06026",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive immunologic disorder characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Affected individuals have T-cell lymphopenia and variable B-cell or immunoglobulin abnormalities. Some patients develop B-cell lymphoma, others manifest neurologic features. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 77.",
"acronym": "IMD77.",
"accession": "DI-06056",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal dominant disorder characterized by recurrent, persistent bacterial and fungal infections with multiple unusual organisms. Skin and pulmonary infections are the most common. Patient macrophages show impaired killing of intracellular bacteria and organisms, including non-tubercular mycobacteria, Pseudomonas, Candida, and Aspergillus. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 78 with autoimmunity and developmental delay.",
"acronym": "IMD78.",
"accession": "DI-06055",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive disorder characterized by immune dysregulation, increased susceptibility to bacterial, viral and fungal infections, recurrent sinopulmonary or skin infections, and autoimmune abnormalities including hemolytic anemia and autoimmune cytopenias. Patients also have global developmental delay with speech delay and variable intellectual disability. Disease onset is in infancy or early childhood. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 79.",
"acronym": "IMD79.",
"accession": "DI-06061",
"synonyms": "CD4 deficiency.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive disorder characterized by childhood onset of recurrent and recalcitrant skin warts due to uncontrolled viral infection with human papillomavirus (HPV). Some patients may also have recurrent respiratory infections. Laboratory studies show a complete absence of CD4+ T cells. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 80 with or without congenital cardiomyopathy.",
"acronym": "IMD80.",
"accession": "DI-06100",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive immunologic disorder with variable manifestations including decreased B and T cells, reduced effector and memory T cells, NK cell deficiency, chronic cytomegalovirus infection. Restrictive cardiomyopathy and hypoplasia of the spleen and thymus have also been reported in some patients. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 81.",
"acronym": "IMD81.",
"accession": "DI-06140",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive disorder characterized by recurrent infections, including fungal infections, associated with T cell, neutrophil, and NK cell dysfunction. B cells may also show maturation abnormalities. Other features include autoimmune hemolytic anemia and abnormal platelet aggregation. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 82 with systemic inflammation.",
"acronym": "IMD82.",
"accession": "DI-06146",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal dominant immunologic disorder with onset in early childhood. It is characterized by recurrent infections with various organisms, and multi-organ inflammation that manifests as colitis, hepatitis, arthritis and dermatitis. Patients have a propensity for the development of lymphoma, usually in adulthood. Disease severity is variable. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 83, susceptibility to viral infections.",
"acronym": "IMD83.",
"accession": "DI-02371",
"synonyms": "Encephalopathy, acute, infection-induced, 2.; Encephalopathy, acute, infection-induced, 2, herpes-specific.; Herpes simplex encephalitis 2.; HSE2.; IIAE2.; Infection-induced acute encephalopathy 2.; TLR3-deficient herpes simplex encephalitis.; ",
"cross_references": "MeSH; D020803.",
"definition": "An immunologic disorder characterized by increased susceptibility to severe viral infections, including herpes simplex virus (HSV), varicella zoster virus (VZV), influenza A virus (IAV), hantavirus, and possibly respiratory syncytial virus (RSV). IMD83 clinical manifestations include acute infection-induced encephalitis and pneumonitis. The susceptibility to encephalitis or pneumonitis appears to result from impaired TLR3-dependent interferon production by nonhematopoietic cells that reside within the central nervous system or lung epithelial cells. IMD83 transmission pattern is consistent with autosomal dominant or autosomal recessive inheritance with incomplete penetrance. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 84.",
"acronym": "IMD84.",
"accession": "DI-06169",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive immunologic disorder characterized by recurrent sinopulmonary infections from childhood associated with low levels of B cells and impaired early B-cell development. There may also be variable T-cell abnormalities. Patients have increased susceptibility to infection with Epstein-Barr virus and a propensity for the development of lymphoma in adulthood. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 85.",
"acronym": "IMD85.",
"accession": "DI-06218",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal dominant immunologic disorder characterized by early- onset autoimmunity and features of combined immunodeficiency such as hypogammaglobulinemia and abnormal T-cell function. Clinical manifestations include atopic eczema and recurrent respiratory infections in the first decade of life, autoimmune enteropathy, growth failure, autoimmune oligoarthritis, interstitial pneumonitis, and EBV viremia. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 86.",
"acronym": "IMD86.",
"accession": "DI-06255",
"synonyms": "Immunodeficiency 86, mycobacteriosis, autosomal recessive.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive disorder characterized by susceptibility to mycobacterial disease after exposure to BCG vaccine. Affected individuals usually develop localized mycobacterial lymphadenopathy. ",
"keywords": null
}
]
}