{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=480","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=440","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}]}