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"count": 6723,
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{
"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 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": "Auditory neuropathy, autosomal dominant 2.",
"acronym": "AUNA2.",
"accession": "DI-06691",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of sensorineural hearing loss with absent or severely abnormal auditory brainstem response, in the presence of normal cochlear outer hair cell function and normal otoacoustic emissions. Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. Affected individuals typically respond to sound but have difficulties in speech discrimination. AUNA2 is characterized by postlingual onset of progressive bilateral sensorineural hearing loss in the second decade, leading to profound deafness in the fifth decade. The outer hair cell function is preserved initially but declines with age. ",
"keywords": "KW-0622:Neuropathy.; KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Immunodeficiency 8 with lymphoproliferation.",
"acronym": "IMD8.",
"accession": "DI-03875",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "A disease of the immune system leading to recurrent infections, and characterized by CD4+ T-cells lymphopenia. Patients can develop B-cell lymphoproliferation associated with Epstein-Barr virus infection. ",
"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 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 87 and autoimmunity.",
"acronym": "IMD87.",
"accession": "DI-06246",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive disorder with onset in infancy or early childhood. It is characterized by increased susceptibility to infections, often Epstein-Barr virus, as well as lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. The disorder results primarily from defects in T-cell function. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 89 and autoimmunity.",
"acronym": "IMD89.",
"accession": "DI-06275",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive disorder characterized by adult onset of recurrent infections, allergies, microcytic anemia, and Crohn disease. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 91 and hyperinflammation.",
"acronym": "IMD91.",
"accession": "DI-06288",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive disorder characterized by immunodeficiency, recurrent infections, and hyperinflammation with systemic involvement. Most patients eventually develop hepatic or renal failure, may have compromised neurologic function, lymphadenopathy or hepatosplenomegaly. Early death often occurs due to multiorgan failure. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 92.",
"acronym": "IMD92.",
"accession": "DI-06291",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive disorder characterized by recurrent bacterial, viral, fungal, or parasitic infections appearing in infancy or early childhood. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 93 and hypertrophic cardiomyopathy.",
"acronym": "IMD93.",
"accession": "DI-06317",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive disorder characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Immunodeficiency 94 with autoinflammation and dysmorphic facies.",
"acronym": "IMD94.",
"accession": "DI-06346",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal dominant disorder characterized by onset in early infancy, lymphadenopathy, autoinflammation, immunodeficiency with hypogammaglobulinemia, and dysmorphic facial features. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 95.",
"acronym": "IMD95.",
"accession": "DI-06358",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive disorder characterized by the onset of recurrent and severe viral respiratory infections in infancy or early childhood, and impaired interferon production during viral infection. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 96.",
"acronym": "IMD96.",
"accession": "DI-06359",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive disorder characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood. Other infections, including gastrointestinal and urinary tract infections, may also occur. Laboratory studies show hypogammaglobulinemia, lymphopenia with increased gamma/delta T cells, and erythrocyte macrocytosis. ",
"keywords": null
}
]
}