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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5640&ordering=synonyms",
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"results": [
{
"identifier": "Immunodeficiency 14B, autosomal recessive.",
"acronym": "IMD14B.",
"accession": "DI-06085",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive, primary immunodeficiency characterized by recurrent sinopulmonary infections apparent in early childhood. Some patients may develop inflammatory bowel disease or osteomyelitis. Immunological features include hypogammaglobulinemia, decreased levels of B cells, and evidence of impaired immune-mediated cytotoxicity and defective T-cell function. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 15A.",
"acronym": "IMD15A.",
"accession": "DI-05387",
"synonyms": null,
"cross_references": "MeSH; D016511.",
"definition": "An autosomal dominant primary immunodeficiency disorder characterized by lymphopenia, inflammation and immune activation of both CD4+ and CD8+ T cells. Patients suffer from recurrent respiratory tract infections, oral candidiasis, and otitis media. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 15B.",
"acronym": "IMD15B.",
"accession": "DI-04000",
"synonyms": null,
"cross_references": "MeSH; D016511.",
"definition": "An autosomal recessive primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinemia with relatively normal numbers of B and T-cells, and impaired differentiation and activation of immune cells. ",
"keywords": "KW-0705:SCID.; "
},
{
"identifier": "Autoimmune thyroid disease 3.",
"acronym": "AITD3.",
"accession": "DI-02878",
"synonyms": null,
"cross_references": "MeSH; D013967.",
"definition": "A complex autoimmune disorder comprising two related diseases affecting the thyroid: Graves disease and Hashimoto thyroiditis. In both disorders, thyroid-reactive T-cells are formed and infiltrate the thyroid gland. In Graves disease, the majority of the T-cells undergo a Th2 differentiation and activate B-cells to produce antibodies against the TSH receptor, which stimulate the thyroid and cause clinical hyperthyroidism. In contrast, Hashimoto thyroiditis is characterized by Th1 switching of the thyroid-infiltrating T-cells, which induces apoptosis of thyroid follicular cells and clinical hypothyroidism. ",
"keywords": null
},
{
"identifier": "Autoimmune interstitial lung, joint, and kidney disease.",
"acronym": "AILJK.",
"accession": "DI-04454",
"synonyms": null,
"cross_references": "MeSH; D001327.",
"definition": "An autoimmune disease characterized by inflammatory arthritis, interstitial lung disease, and immune complex-mediated renal disease. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 20.",
"acronym": "IMD20.",
"accession": "DI-04050",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "A rare autosomal recessive primary immunodeficiency characterized by functional deficiency of NK cells. Affected individuals typically present with severe herpes viral infections, particularly Epstein Barr virus (EBV), and human papillomavirus (HPV). ",
"keywords": null
},
{
"identifier": "Immunodeficiency 22.",
"acronym": "IMD22.",
"accession": "DI-04079",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "A primary immunodeficiency characterized by T-cell dysfunction. Affected individuals present with lymphopenia, recurrent infections, severe diarrhea, and failure to thrive. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 24.",
"acronym": "IMD24.",
"accession": "DI-04159",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "A life-threatening immunodeficiency, characterized by an impaired capacity of activated T and B cells to proliferate in response to antigen receptor-mediated activation. Patients have early onset of severe chronic viral infections, mostly caused by herpes viruses, including EBV and varicella zooster virus (VZV), and also suffer from recurrent encapsulated bacterial infections, a spectrum of infections typical of a combined deficiency of adaptive immunity. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 26 with or without neurologic abnormalities.",
"acronym": "IMD26.",
"accession": "DI-04200",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "A form of severe combined immunodeficiency characterized by reduced or absent T and B cells, recurrent candidiasis, and lower respiratory tract infections. Some patients show dysmorphic features, severe growth failure, microcephaly, seizures, and impaired neurological functions. ",
"keywords": "KW-0705:SCID.; "
},
{
"identifier": "Autoimmune disease, multisystem, infantile-onset, 2.",
"acronym": "ADMIO2.",
"accession": "DI-04749",
"synonyms": null,
"cross_references": "MeSH; D001327.",
"definition": "An autosomal recessive, autoimmune disorder characterized by systemic manifestations including blistering skin disease, uncontrollable bullous pemphigoid, inflammatory colitis, autoimmune hypothyroidism, proteinuria and nephrotic syndrome. ",
"keywords": null
},
{
"identifier": "Autoimmune disease, multisystem, infantile-onset, 1.",
"acronym": "ADMIO1.",
"accession": "DI-04194",
"synonyms": null,
"cross_references": "MeSH; D001327.",
"definition": "A disorder characterized by early childhood onset of a spectrum of autoimmune manifestations affecting multiple organs, including insulin-dependent diabetes mellitus and autoimmune enteropathy or celiac disease. Other features include short stature, non-specific dermatitis, hypothyroidism, autoimmune arthritis, and delayed puberty. ",
"keywords": "KW-0219:Diabetes mellitus.; KW-0242:Dwarfism.; "
},
{
"identifier": "Autism, X-linked 5.",
"acronym": "AUTSX5.",
"accession": "DI-03140",
"synonyms": null,
"cross_references": "MeSH; D001321.",
"definition": "A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability. ",
"keywords": "KW-1269:Autism.; "
},
{
"identifier": "Autism, X-linked 3.",
"acronym": "AUTSX3.",
"accession": "DI-02433",
"synonyms": null,
"cross_references": "MeSH; D001321.",
"definition": "A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability. ",
"keywords": "KW-1269:Autism.; "
},
{
"identifier": "Autism 20.",
"acronym": "AUTS20.",
"accession": "DI-05821",
"synonyms": null,
"cross_references": "MeSH; D001321.",
"definition": "A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability. The transmission pattern of AUTS20 is consistent with autosomal dominant inheritance. ",
"keywords": "KW-1269:Autism.; "
},
{
"identifier": "Autism 19.",
"acronym": "AUTS19.",
"accession": "DI-03649",
"synonyms": null,
"cross_references": "MeSH; D001321.",
"definition": "A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability. ",
"keywords": "KW-1269:Autism.; "
},
{
"identifier": "Autism 17.",
"acronym": "AUTS17.",
"accession": "DI-02794",
"synonyms": null,
"cross_references": "MeSH; D001321.",
"definition": "A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability. ",
"keywords": "KW-1269:Autism.; "
},
{
"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 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": "Cardiomyopathy, dilated, 1W.",
"acronym": "CMD1W.",
"accession": "DI-00225",
"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.; "
}
]
}