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"count": 6723,
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{
"identifier": "Immunodeficiency, common variable, 11.",
"acronym": "CVID11.",
"accession": "DI-04080",
"synonyms": "IL21 deficiency.; ",
"cross_references": "MeSH; D017074.",
"definition": "A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low. ",
"keywords": null
},
{
"identifier": "Immunodeficiency, common variable, 12, with autoimmunity.",
"acronym": "CVID12.",
"accession": "DI-04553",
"synonyms": "NFKB1 deficiency.; ",
"cross_references": "MeSH; D017074.",
"definition": "A primary immunodeficiency characterized by hypogammaglobulinemia and recurrent bacterial infections. About half of patients develop autoimmune features, including cytopenia, as well as generalized inflammation and lymphoproliferation manifest as lymphadenopathy or hepatosplenomegaly. ",
"keywords": null
},
{
"identifier": "Immunodeficiency, common variable, 13.",
"acronym": "CVID13.",
"accession": "DI-04688",
"synonyms": null,
"cross_references": "MeSH; D017074.",
"definition": "A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. CVID13 is an autosomal dominant disease associated with a striking decrease in B-cell numbers. ",
"keywords": null
},
{
"identifier": "Immunodeficiency, common variable, 14.",
"acronym": "CVID14.",
"accession": "DI-05140",
"synonyms": null,
"cross_references": "MeSH; D017074.",
"definition": "A primary immunodeficiency resulting in recurrent sinopulmonary infections since early childhood, and characterized by hypogammaglobulinemia with undetectable IgG and IgA, poor response to vaccination, and decreased levels of switched memory B cells. CVID14 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Immunodeficiency, common variable, 15.",
"acronym": "CVID15.",
"accession": "DI-06822",
"synonyms": null,
"cross_references": "MeSH; D017074.",
"definition": "An autosomal dominant immunologic disorder resulting in recurrent severe infections since early childhood or infancy, and characterized by hypogammaglobulinemia with antibody deficiencies of IgM, IgG, and IgA due to impaired plasma cell homeostasis, although other B cell subset numbers are normal. T and NK cells are also normal. CVID15 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Immunodeficiency, common variable, 2.",
"acronym": "CVID2.",
"accession": "DI-01371",
"synonyms": "Antibody deficiency due to TACI defect.; Hypogammaglobulinemia due to TACI deficiency.; ",
"cross_references": "MeSH; D017074.",
"definition": "A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low. ",
"keywords": null
},
{
"identifier": "Immunodeficiency, common variable, 3.",
"acronym": "CVID3.",
"accession": "DI-02800",
"synonyms": "Antibody deficiency due to CD19 defect.; ",
"cross_references": "MeSH; D017074.",
"definition": "A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low. ",
"keywords": null
},
{
"identifier": "Immunodeficiency, common variable, 4.",
"acronym": "CVID4.",
"accession": "DI-02801",
"synonyms": "Antibody deficiency due to BAFFR defect.; ",
"cross_references": "MeSH; D017074.",
"definition": "A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low. ",
"keywords": null
},
{
"identifier": "Immunodeficiency, common variable, 5.",
"acronym": "CVID5.",
"accession": "DI-02802",
"synonyms": "Antibody deficiency due to CD20 defect.; ",
"cross_references": "MeSH; D017074.",
"definition": "A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low. ",
"keywords": null
},
{
"identifier": "Immunodeficiency, common variable, 6.",
"acronym": "CVID6.",
"accession": "DI-02803",
"synonyms": "Antibody deficiency due to CD81 defect.; ",
"cross_references": "MeSH; D017074.",
"definition": "A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low. ",
"keywords": null
},
{
"identifier": "Immunodeficiency, common variable, 7.",
"acronym": "CVID7.",
"accession": "DI-03489",
"synonyms": null,
"cross_references": "MeSH; D017074.",
"definition": "A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low. ",
"keywords": null
},
{
"identifier": "Immunodeficiency, common variable, 8, with autoimmunity.",
"acronym": "CVID8.",
"accession": "DI-03490",
"synonyms": null,
"cross_references": "MeSH; D017074.",
"definition": "An autosomal recessive immunologic disorder associated with defective B-cell differentiation and decreased or absent antibody production. Affected individuals have early-childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. ",
"keywords": null
},
{
"identifier": "Immunodeficiency, developmental delay, and hypohomocysteinemia.",
"acronym": "IMDDHH.",
"accession": "DI-05121",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An early onset multisystem disorder characterized by immunodeficiency, recurrent infections, developmental delay, poor growth, intellectual disability, and hypohomocysteinemia. Some patients manifest congenital cardiac defects. IMDDHH inheritance pattern is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Immunodeficiency due to defect in MAPBP-interacting protein.",
"acronym": "ID-MAPBPIP.",
"accession": "DI-01810",
"synonyms": null,
"cross_references": "MedGen; C1835829.",
"definition": "This form of primary immunodeficiency syndrome includes congenital neutropenia, partial albinism, short stature and B-cell and cytotoxic T-cell deficiency. ",
"keywords": null
},
{
"identifier": "Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome.",
"acronym": "IPEX.",
"accession": "DI-01811",
"synonyms": "X-linked autoimmunity-immunodeficiency syndrome.; ",
"cross_references": "MedGen; C1844663.",
"definition": "Characterized by neonatal onset insulin-dependent diabetes mellitus, infections, secretory diarrhea, thrombocytopenia, anemia and eczema. It is usually lethal in infancy. ",
"keywords": null
},
{
"identifier": "Immunodeficiency with hyper-IgM 2.",
"acronym": "HIGM2.",
"accession": "DI-01241",
"synonyms": "Hyper-IgM immunodeficiency type 2.; Hyper-IgM syndrome 2.; ",
"cross_references": "MeSH; D053306.",
"definition": "A rare immunodeficiency syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE. It results in a profound susceptibility to bacterial infections. ",
"keywords": null
},
{
"identifier": "Immunodeficiency with hyper-IgM 3.",
"acronym": "HIGM3.",
"accession": "DI-01763",
"synonyms": "Hyper-IgM immunodeficiency type 3.; Hyper-IgM syndrome 3.; ",
"cross_references": "MeSH; D053306.",
"definition": "A rare immunodeficiency syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE. It results in a profound susceptibility to bacterial infections. ",
"keywords": null
},
{
"identifier": "Immunodeficiency with hyper-IgM 5.",
"acronym": "HIGM5.",
"accession": "DI-01812",
"synonyms": "Hyper-IgM immunodeficiency type 5.; Hyper-IgM syndrome 5.; ",
"cross_references": "MeSH; D053306.",
"definition": "A rare immunodeficiency syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE. It results in a profound susceptibility to bacterial infections. ",
"keywords": null
},
{
"identifier": "Immunodeficiency with hyper-IgM, type 1.",
"acronym": "HIGM1.",
"accession": "DI-02449",
"synonyms": "HIGM.; Hyper-IgM syndrome.; Hyper-IgM syndrome 1.; IHIS.; IMD3.; Immunodeficiency 3.; XHIM.; X-linked hyper IgM syndrome.; X-linked immunodeficiency with hyper-IgM 1.; ",
"cross_references": "MeSH; D053307.",
"definition": "Immunoglobulin isotype switch defect characterized by elevated concentrations of serum IgM and decreased amounts of all other isotypes. Affected males present at an early age (usually within the first year of life) recurrent bacterial and opportunistic infections, including Pneumocystis carinii pneumonia and intractable diarrhea due to cryptosporidium infection. Despite substitution treatment with intravenous immunoglobulin, the overall prognosis is rather poor, with a death rate of about 10% before adolescence. ",
"keywords": null
},
{
"identifier": "Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia.",
"acronym": "XMEN.",
"accession": "DI-03201",
"synonyms": null,
"cross_references": "MeSH; D008231.",
"definition": "A disease characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation. ",
"keywords": null
}
]
}