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"count": 6723,
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{
"identifier": "Immunodeficiency 31C.",
"acronym": "IMD31C.",
"accession": "DI-03179",
"synonyms": "CANDF7.; Candidiasis, familial, 7.; Candidiasis, familial chronic mucocutaneous, autosomal dominant.; Chronic mucocutaneous candidiasis 7.; ",
"cross_references": "MeSH; D002178.",
"definition": "A primary immunodeficiency disorder with altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 32A.",
"acronym": "IMD32A.",
"accession": "DI-03810",
"synonyms": "Autosomal dominant CD11C-positive/CD1C-positive dendritic cell deficiency.; Autosomal dominant immunodeficiency 32A, mycobacteriosis.; Autosomal dominant IRF8 deficiency.; ",
"cross_references": "MeSH; D007153.",
"definition": "An immunologic disorder characterized by abnormal peripheral blood myeloid phenotype with a marked loss of CD11C-positive/CD1C dendritic cells, resulting in selective susceptibility to mycobacterial infections. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 32B.",
"acronym": "IMD32B.",
"accession": "DI-03811",
"synonyms": "Autosomal recessive monocyte and dendritic cell deficiency.; Immunodeficiency 32B, monocyte, dendritic cell, and natural killer cell deficiency, autosomal recessive.; IRF8 deficiency, autosomal recessive.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive primary immunodeficiency characterized by monocyte and dendritic cell deficiency, myeloproliferation, and susceptibility to severe opportunistic infections, including disseminated BCG infection and oral candidiasis. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 33.",
"acronym": "IMD33.",
"accession": "DI-02445",
"synonyms": "AMCBX1.; Familial, X-linked, atypical mycobacteriosis 1.; IPD2.; Recurrent isolated invasive pneumococcal disease 2.; X-linked disseminated atypical mycobacterial infection type 1.; X-linked immunodeficiency 33, mycobacteriosis.; X-linked susceptibility to mycobacterial disease type 1.; ",
"cross_references": "MeSH; D007153.",
"definition": "An X-linked recessive disorder characterized by variably impaired immunologic function and early-onset recurrent infections, usually due to pneumococcus, H. influenzae, and atypical mycobacteria. Features of hypohidrotic ectodermal dysplasia are generally not present, although some patients may have conical teeth or hypodontia. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 34.",
"acronym": "IMD34.",
"accession": "DI-03091",
"synonyms": "AMCBX2.; Familial, X-linked, atypical mycobacteriosis 2.; Familial disseminated atypical mycobacterial infection X-linked 2.; Mendelian susceptibility to mycobacterial disease X-linked 2.; X-linked immunodeficiency 34, mycobacteriosis.; ",
"cross_references": "MeSH; D007153.",
"definition": "A form of Mendelian susceptibility to mycobacterial disease, a rare condition 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, with the exception of Salmonella which infects less than 50% of these individuals. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 35.",
"acronym": "IMD35.",
"accession": "DI-02224",
"synonyms": "Autosomal recessive HIES with atypical mycobacteriosis.; Autosomal recessive hyper-IgE syndrome with atypical mycobacteriosis.; TYK2 deficiency.; Tyrosine kinase 2 deficiency.; ",
"cross_references": "MeSH; D007153.",
"definition": "A primary immunodeficiency characterized by recurrent skin abscesses, pneumonia, and highly elevated serum IgE. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 36 with lymphoproliferation.",
"acronym": "IMD36.",
"accession": "DI-04215",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "A primary immunodeficiency characterized by impaired B-cell function, hypogammaglobulinemia and recurrent infections. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 37.",
"acronym": "IMD37.",
"accession": "DI-04266",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "A form of primary combined immunodeficiency, a group of disorders characterized by severe recurrent infections, with normal numbers or an absence of T and B lymphocytes, and impaired cellular and humoral immunity. IMD37 is characterized by hypogammaglobulinemia without lymphopenia, but with profoundly reduced memory B cells and memory T cells, and increased numbers of circulating naive lymphocytes. Inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 38, with basal ganglia calcification.",
"acronym": "IMD38.",
"accession": "DI-04280",
"synonyms": "Immunodeficiency 38, mycobacteriosis, autosomal recessive.; ISG15 deficiency, autosomal recessive.; ",
"cross_references": "MeSH; D007153.",
"definition": "A primary immunodeficiency predisposing individuals to severe clinical disease upon infection with weakly virulent mycobacteria, including Mycobacterium bovis Bacille Calmette-Guerin (BCG) vaccines. Patients are also susceptible to Salmonella and Mycobacterium tuberculosis infections. Affected individuals have intracranial calcification. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 39.",
"acronym": "IMD39.",
"accession": "DI-04423",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "A primary immunodeficiency causing severe, life-threatening acute respiratory distress upon infection with H1N1 influenza A. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 40.",
"acronym": "IMD40.",
"accession": "DI-04461",
"synonyms": null,
"cross_references": "MeSH; D016511.",
"definition": "A form of combined immunodeficiency characterized by lymphopenia, and defective T-cell, B-cell, and NK-cell responses. Patients suffer from severe invasive bacterial and viral infections in early childhood and may die without bone marrow transplantation. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 41 with lymphoproliferation and autoimmunity.",
"acronym": "IMD41.",
"accession": "DI-04551",
"synonyms": "CD25 deficiency.; IL2RA deficiency.; Interleukin 2 receptor alpha deficiency.; ",
"cross_references": "MeSH; D007153.",
"definition": "A disorder of immune dysregulation characterized by recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features, such as autoimmune enteropathy and eczematous skin lesions. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 42.",
"acronym": "IMD42.",
"accession": "DI-04562",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive primary immunodeficiency characterized by increased susceptibility to concomitant candidiasis and mycobacteriosis. Candidiasis is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida. Mycobacteriosis is characterized by infections caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non- tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. IMD42 patients vaccinated with BCG are particularly at risk for developing disseminated mycobacterial infections. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 43.",
"acronym": "IMD43.",
"accession": "DI-01765",
"synonyms": "B2M deficiency.; Beta-2-microglobulin deficiency.; Hypercatabolic hypoproteinemia.; Hypoproteinemia, hypercatabolic.; MHC1D4.; MHC class I deficiency 4.; ",
"cross_references": "MeSH; D007153.",
"definition": "A disorder characterized by marked reduction in serum concentrations of immunoglobulins and albumin, and hypoproteinemia due to hypercatabolism. Patients may suffer from recurrent respiratory tract infections and severe skin disease. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 44.",
"acronym": "IMD44.",
"accession": "DI-04585",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive disorder characterized by increased susceptibility to viral infection, resulting in some patients in encephalopathy and infection-associated neurologic decompensation. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 45.",
"acronym": "IMD45.",
"accession": "DI-04586",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive disorder characterized by increased susceptibility to viral infection due to impaired antiviral immunity, resulting in infection-associated encephalopathy. Affected individuals are at risk for developing fatal encephalitis after routine measles/mumps/rubella (MMR) vaccination. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 46.",
"acronym": "IMD46.",
"accession": "DI-04634",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive primary immunodeficiency disorder characterized by early-onset chronic diarrhea, recurrent infections, hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, and intermittent thrombocytopenia. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 47.",
"acronym": "IMD47.",
"accession": "DI-04743",
"synonyms": "CDG2S.; CDGIIs.; CDG IIs.; Congenital disorder of glycosylation, type IIs.; Congenital disorder of glycosylation 2S.; Immunodeficiency and hepatopathy with or without neurologic features.; ",
"cross_references": "MeSH; D007153.",
"definition": "A complex immunodeficiency syndrome characterized by hypogammaglobulinemia, recurrent bacterial infections, defective glycosylation of serum proteins, and liver disease with neonatal jaundice and hepatosplenomegaly. Some patients may also have neurologic features, including seizures, mild intellectual disability, and behavioral abnormalities. Inheritance is X-linked recessive. ",
"keywords": "KW-0900:Congenital disorder of glycosylation.; "
},
{
"identifier": "Immunodeficiency 48.",
"acronym": "IMD48.",
"accession": "DI-02295",
"synonyms": "Selective T-cell defect.; STCD.; ",
"cross_references": "MeSH; D016511.",
"definition": "A form of severe immunodeficiency characterized by a selective absence of CD8+ T-cells. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 49.",
"acronym": "IMD49.",
"accession": "DI-04911",
"synonyms": "SCID, T cell-negative, B cell-positive, NK cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities.; SCID, T-cell-negative, B-cell-positive, NK-cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities.; Severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities.; ",
"cross_references": "MeSH; D016511.",
"definition": "A form of severe combined immunodeficiency characterized by severe T- cell lymphopenia, no detectable T-cell receptor excision circles, no naive helper CD4+ T-cells, and impaired T-cell proliferative response. In addition to primary immunodeficiency, affected individuals manifest multiple abnormal systemic features, including severe delayed psychomotor development, intellectual disability, spastic quadriplegia, and craniofacial abnormalities. ",
"keywords": "KW-0705:SCID.; KW-0991:Intellectual disability.; "
}
]
}