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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4480&ordering=synonyms",
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"results": [
{
"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 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": "Cutis laxa, autosomal recessive, 1D.",
"acronym": "ARCL1D.",
"accession": "DI-06874",
"synonyms": null,
"cross_references": "MeSH; D003483.",
"definition": "A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The clinical spectrum of autosomal recessive cutis laxa is highly heterogeneous with respect to organ involvement and severity. ARCL1D features include skin laxity, thin and translucent skin with easy bruising, facial dysmorphism, joint hypermobility, muscle hypotonia, and multiple severe herniations. Skin laxity may progress with age. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, dilated, 1MM.",
"acronym": "CMD1MM.",
"accession": "DI-03872",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Arthrogryposis, Perthes disease, and upward gaze palsy.",
"acronym": "APUG.",
"accession": "DI-04768",
"synonyms": null,
"cross_references": "MeSH; D015835.",
"definition": "An autosomal recessive, syndromic form of arthrogryposis, a disease characterized by persistent joints flexure or contracture. APUG patients manifest an unusual combination of arthrogryposis, upward gaze palsy, and avascular necrosis of the hip (Perthes disease). ",
"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 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": "Cardiomyopathy, dilated, 1M.",
"acronym": "CMD1M.",
"accession": "DI-00219",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"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 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": "Cutis laxa, autosomal dominant, 3.",
"acronym": "ADCL3.",
"accession": "DI-04558",
"synonyms": null,
"cross_references": "MeSH; D003483.",
"definition": "A form of cutis laxa, a connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. Additional variable clinical features are gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema. ADCL3 patients manifest thin skin with visible veins and wrinkles, cataract or corneal clouding, moderate intellectual disability, muscular hypotonia with brisk muscle reflexes, clenched fingers, and pre- and postnatal growth retardation. ",
"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": "Cutis laxa, autosomal dominant, 2.",
"acronym": "ADCL2.",
"accession": "DI-03317",
"synonyms": null,
"cross_references": "MeSH; D003483.",
"definition": "A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. Additional variable clinical features are gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, dilated, 1LL.",
"acronym": "CMD1LL.",
"accession": "DI-03860",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"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 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": "Cutis laxa, autosomal dominant, 1.",
"acronym": "ADCL1.",
"accession": "DI-01204",
"synonyms": null,
"cross_references": "MeSH; D003483.",
"definition": "A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. Additional variable clinical features are gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema. ",
"keywords": null
},
{
"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": "Cutaneous telangiectasia and cancer syndrome, familial.",
"acronym": "FCTCS.",
"accession": "DI-03427",
"synonyms": null,
"cross_references": "MeSH; D013684.",
"definition": "A disease characterized by cutaneous telangiectases in infancy with patchy alopecia over areas of affected skin, thinning of the lateral eyebrows, and mild dental and nail anomalies. Affected individuals are at increased risk of developing oropharyngeal cancer, and other malignancies have been reported as well. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, dilated, 1L.",
"acronym": "CMD1L.",
"accession": "DI-00218",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
}
]
}