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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=480&ordering=identifier",
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"results": [
{
"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 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, X-linked 1.",
"acronym": "AUTSX1.",
"accession": "DI-02431",
"synonyms": "Asperger syndrome, X-linked, 1.; ASPGX1.; ",
"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.; "
},
{
"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 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 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 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": "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": "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, 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, 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, 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, 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 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 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 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 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 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 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
}
]
}