Human Disease List
GET /api/human_diseases/?format=api&offset=6240&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6260&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6220&ordering=-identifier", "results": [ { "identifier": "Autoinflammation, immune dysregulation, and eosinophilia.", "acronym": "AIIDE.", "accession": "DI-05905", "synonyms": "Atopic dermatitis, enteritis, colitis, and eosinophilia.; ", "cross_references": "MeSH; D056660.", "definition": "An autosomal dominant disorder characterized by immune dysregulation, severe atopic dermatitis, and chronic gastrointestinal inflammation. Additional features include asthma, food or environmental allergies, as well as poor overall growth with short stature. ", "keywords": null }, { "identifier": "Autoinflammation, antibody deficiency, and immune dysregulation.", "acronym": "APLAID.", "accession": "DI-03601", "synonyms": null, "cross_references": "MeSH; D007153.", "definition": "An autosomal dominant systemic disorder characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract. Affected individuals have a mild humoral immune deficiency associated with recurrent sinopulmonary infections, but no evidence of circulating autoantibodies. ", "keywords": null }, { "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 polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia.", "acronym": "APS1.", "accession": "DI-01198", "synonyms": "APECED.; APS-1.; Autoimmune polyendocrine syndrome type I.; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.; Autoimmune polyendocrinopathy syndrome type I.; Autosomal dominant autoimmune polyendocrinopathy syndrome type I.; Hypoadrenocorticism with hypoparathyroidism and superficial moniliasis.; PGA I.; Polyglandular autoimmune syndrome type I.; Polyglandular deficiency syndrome Persian-Jewish type.; Whitaker syndrome.; ", "cross_references": "MeSH; D016884.", "definition": "A rare disease characterized by the combination of chronic mucocutaneous candidiasis, hypoparathyroidism and Addison disease. Symptoms of mucocutaneous candidiasis manifest first, followed by hypotension or fatigue occurring as a result of Addison disease. APS1 is associated with other autoimmune disorders including diabetes mellitus, vitiligo, alopecia, hepatitis, pernicious anemia and primary hypothyroidism. ", "keywords": null }, { "identifier": "Autoimmune lymphoproliferative syndrome 3.", "acronym": "ALPS3.", "accession": "DI-03976", "synonyms": "Autoimmune lymphoproliferative syndrome, type III.; CVID9.; Immunodeficiency, common variable, 9.; ", "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. CVID9 patients have B-cell deficiency and severe autoimmunity. ", "keywords": null }, { "identifier": "Autoimmune lymphoproliferative syndrome 2A.", "acronym": "ALPS2A.", "accession": "DI-00157", "synonyms": "ALPS2.; Autoimmune lymphoproliferative syndrome, type II.; Autoimmune lymphoproliferative syndrome type IIA.; ", "cross_references": "MeSH; D056735.", "definition": "A disorder of apoptosis that manifests in early childhood and results in the accumulation of autoreactive lymphocytes. It is characterized by non-malignant lymphadenopathy with hepatosplenomegaly, and autoimmune hemolytic anemia, thrombocytopenia and neutropenia. ", "keywords": null }, { "identifier": "Autoimmune lymphoproliferative syndrome 1B.", "acronym": "ALPS1B.", "accession": "DI-00156", "synonyms": "Autoimmune lymphoproliferative syndrome type IB.; Canale-Smith syndrome.; CSS.; ", "cross_references": "MeSH; D056735.", "definition": "A disorder of apoptosis that manifests in early childhood and results in the accumulation of autoreactive lymphocytes. It is characterized by non-malignant lymphadenopathy with hepatosplenomegaly, and autoimmune hemolytic anemia, thrombocytopenia and neutropenia. ", "keywords": null }, { "identifier": "Autoimmune lymphoproliferative syndrome 1A.", "acronym": "ALPS1A.", "accession": "DI-00155", "synonyms": "Autoimmune lymphoproliferative syndrome type IA.; Canale-Smith syndrome.; CSS.; ", "cross_references": "MeSH; D056735.", "definition": "A disorder of apoptosis that manifests in early childhood and results in the accumulation of autoreactive lymphocytes. It is characterized by non-malignant lymphadenopathy with hepatosplenomegaly, and autoimmune hemolytic anemia, thrombocytopenia and neutropenia. ", "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": "Autoimmune disease, multisystem, with facial dysmorphism.", "acronym": "ADMFD.", "accession": "DI-02639", "synonyms": "Syndromic multisystem autoimmune disease.; ", "cross_references": "MeSH; D001327.", "definition": "A disorder characterized by organomegaly, failure to thrive, developmental delay, dysmorphic features and autoimmune inflammatory cell infiltration of the lungs, liver and gut. ", "keywords": null }, { "identifier": "Autoimmune disease, multisystem, infantile-onset, 3.", "acronym": "ADMIO3.", "accession": "DI-06710", "synonyms": "CBLB deficiency.; ", "cross_references": "MeSH; D001327.", "definition": "An autosomal recessive disorder characterized by autoimmune manifestations apparent in the first months or years of life. Clinical features may include hypothyroidism, type 1 diabetes mellitus, systemic inflammatory manifestations such as fever and hepatomegaly, and autoimmune cytopenias. ", "keywords": null }, { "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": "Autoimmune disease 6.", "acronym": "AIS6.", "accession": "DI-02927", "synonyms": "Autoimmune disease susceptibility 6.; ", "cross_references": "MeSH; D001327.", "definition": "Individuals manifesting susceptibility to autoimmune disease type 6 can suffer from juvenile idiopathic arthritis, rheumatoid arthritis, multiple sclerosis, Sjogren syndrome, systemic lupus erythematosus, type 1 diabetes, ulcerative colitis, and Crohn disease. ", "keywords": null }, { "identifier": "Autoimmune disease 1.", "acronym": "AIS1.", "accession": "DI-02737", "synonyms": "Autoimmune disease susceptibility 1.; Autoimmune disease susceptibility locus chromosome 1p-related.; VAMAS2.; Vitiligo-associated multiple autoimmune disease susceptibility 2.; Vitiligo-associated multiple autoimmune disease type 2.; ", "cross_references": "MeSH; D001327.", "definition": "An autoimmune disorder characterized by the association of vitiligo with autoimmune thyroiditis (Hashimoto thyroiditis). ", "keywords": null }, { "identifier": "Autism, X-linked 6.", "acronym": "AUTSX6.", "accession": "DI-03482", "synonyms": "Epsilon-trimethyllysine hydroxylase deficiency.; TMLHED.; ", "cross_references": "MeSH; D008661.", "definition": "A form of autism, 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. AUTSX6 patients may respond favorably to carnitine supplementation. ", "keywords": "KW-1269:Autism.; " }, { "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 4.", "acronym": "AUTSX4.", "accession": "DI-04536", "synonyms": "Chromosome Xp22 deletion syndrome.; ", "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, X-linked 2.", "acronym": "AUTSX2.", "accession": "DI-02432", "synonyms": "Asperger syndrome, X-linked, 2.; ASPGX2.; Intellectual developmental disorder, X-linked.; ", "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.; " } ] }