{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5620&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5580&ordering=synonyms","results":[{"identifier":"IgA nephropathy.","acronym":"IgAN.","accession":"DI-01809","synonyms":null,"cross_references":"MedGen; C3160719.","definition":"Most common primary glomerulonephritis, which is partly due to aberrant or incomplete galactosylation of IgA1 molecules. ","keywords":null},{"identifier":"IgA nephropathy 3.","acronym":"IGAN3.","accession":"DI-04653","synonyms":null,"cross_references":"MeSH; D005922.","definition":"A form of IgA nephropathy, a common primary glomerulonephritis characterized by glomerular sclerosis, interstitial fibrosis, and mesangial glomerular deposits of immunoglobulin A and immunoglobulin G visible on renal biopsies. IgA nephropathy is associated with renal insufficiency that can progress to end-stage renal disease. Proteinuria and hematuria are characteristic clinical presentations. ","keywords":null},{"identifier":"Imagawa-Matsumoto syndrome.","acronym":"IMMAS.","accession":"DI-05768","synonyms":null,"cross_references":"MeSH; D000015.","definition":"An autosomal dominant syndrome characterized by generalized overgrowth, dysmorphic features, musculoskeletal abnormalities, developmental delay and intellectual disability. Some patients have genitourinary and structural brain abnormalities. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Iminoglycinuria.","acronym":"IG.","accession":"DI-02940","synonyms":null,"cross_references":"MeSH; D000608.","definition":"A disorder of renal tubular reabsorption of glycine and imino acids (proline and hydroxyproline), marked by excessive levels of all three substances in the urine. ","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":"Immune dysregulation, autoimmunity, and autoinflammation.","acronym":"IDAA.","accession":"DI-06764","synonyms":null,"cross_references":"MeSH; D007154.","definition":"An autosomal dominant disorder characterized by anemia and thrombocytopenia associated with circulating autoantibodies, positive Coombs test, immune dysregulation, and increased levels of proinflammatory cytokines. ","keywords":null},{"identifier":"Immunodeficiency 115 with autoinflammation.","acronym":"IMD115.","accession":"DI-06795","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive immunologic disorder manifesting in early infancy and characterized by combined immunodeficiency, recurrent bacterial, viral, and fungal infections, as well as autoinflammatory features, including arthritis and dermatitis. ","keywords":null},{"identifier":"Immunodeficiency 101, varicella zoster virus-specific.","acronym":"IMD101.","accession":"DI-06422","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal dominant immunologic disorder characterized by reactivation of varicella zoster virus (VZV) infection in adulthood after primary childhood infection with VZV. The viral reactivation manifests as central nervous system vasculitis with stroke-like episodes and lacunar infarcts on brain imaging. Features include headache, hemiparesis, impaired balance, and other neurologic signs. ","keywords":null},{"identifier":"Immunodeficiency 102.","acronym":"IMD102.","accession":"DI-06439","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An X-linked recessive disorder characterized by recurrent sinopulmonary, cutaneous and mucosal infections, and refractory autoimmune cytopenias that appear in early childhood. Affected individuals have bacterial, viral, and fungal infections, as well as hemolytic anemia, thrombocytopenia, lymphopenia, and decreased NK cells. The disorder may also manifest as a hyperinflammatory state with immune dysregulation. ","keywords":null},{"identifier":"Autoinflammation with pulmonary and cutaneous vasculitis.","acronym":"AIPCV.","accession":"DI-06633","synonyms":null,"cross_references":"MeSH; D056660.","definition":"An autosomal dominant disorder characterized by cutaneous vasculitis and chronic pulmonary inflammation that evolves to fibrosis. AIPCV manifests soon after birth with petechial skin lesions, followed by progressive pulmonary involvement causing restrictive lung disease and respiratory insufficiency. ","keywords":null},{"identifier":"Immunodeficiency 107, susceptibility to invasive Staphylococcus aureus infection.","acronym":"IMD107.","accession":"DI-06476","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal dominant immunologic disorder characterized by increased susceptibility to invasive and severe Staphylococcus aureus infection, causing life-threatening skin or pulmonary necrosis. Clinically, penetrance is incomplete and expressivity is variable. ","keywords":null},{"identifier":"Immunodeficiency 109 with lymphoproliferation.","acronym":"IMD109.","accession":"DI-06628","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive primary immune disorder characterized by recurrent sinopulmonary infections, susceptibility to infection with Epstein-Barr virus (EBV), persistent EBV viremia, and EBV-induced lymphoproliferation or B-cell lymphoma. ","keywords":null},{"identifier":"Autoinflammation with infantile enterocolitis.","acronym":"AIFEC.","accession":"DI-04246","synonyms":null,"cross_references":"MeSH; D056660.","definition":"An autosomal dominant disorder characterized by neonatal-onset enterocolitis, periodic fever, and fatal or near-fatal episodes of autoinflammation. Affected individuals tend to have poor overall growth and gastrointestinal symptoms in infancy, recurrent febrile episodes with splenomegaly, and sometimes hematologic disturbances, arthralgias, or myalgias. ","keywords":null},{"identifier":"Immunodeficiency 112.","acronym":"IMD112.","accession":"DI-06724","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive, primary immunologic disorder characterized by variable abnormalities affecting lymphoid immunity, including hypogammaglobulinemia, lymphopenia or paradoxical lymphocytosis, and recurrent bacterial, viral, and fungal infections. ","keywords":null},{"identifier":"Immunodeficiency 113 with autoimmunity and autoinflammation.","acronym":"IMD113.","accession":"DI-06786","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive immunologic disorder characterized by recurrent and severe infections, early-onset autoimmunity, inflammation, and facial dysmorphism. Features of autoimmunity and autoinflammation include hemolytic anemia, thrombocytopenia, hepatosplenomegaly, leukocytosis, neutrophilia, and elevated acute phase reactants. ","keywords":null},{"identifier":"Immunodeficiency 114, folate-responsive.","acronym":"IMD114.","accession":"DI-06794","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive immunologic disorder manifesting in early infancy and characterized by recurrent skin and respiratory infections, mucosal bleeding, oral ulcers, chronic diarrhea, and poor overall growth. Affected individuals have lymphopenia, low serum immunoglobulins, and impaired T cell proliferation. Some patients have global developmental delay. ","keywords":null},{"identifier":"Immunodeficiency 119.","acronym":"IMD119.","accession":"DI-06903","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive immunologic disorder characterized by childhood-onset of recurrent respiratory tract infections, susceptibility to chronic DNA-based viral infections, hypogammaglobulinemia, and panlymphopenia. ","keywords":null},{"identifier":"Immunodeficiency 12.","acronym":"IMD12.","accession":"DI-03911","synonyms":null,"cross_references":"MeSH; D007153.","definition":"A primary immunodeficiency characterized by onset in infancy of recurrent bacterial and candidal infections resulting in bronchiectasis and growth delay. Manifestations include mastoiditis, aphthous ulcers, cheilitis, gingivitis, esophagitis, gastritis, duodenitis, and meningitis. Levels of absolute lymphocytes and serum immunoglobulins are normal, but specific antibody titers are low despite immunization, and T-cells show impaired proliferative responses to mitogens. ","keywords":null},{"identifier":"Immunodeficiency 120.","acronym":"IMD120.","accession":"DI-06904","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive immunologic disorder manifesting in early childhood with recurrent upper and lower respiratory tract infections, lymphopenia, and hypogammaglobulinemia. Affected individuals may also develop persistent viral infections, particularly of the herpes family. Additional variable features include hearing loss, speech delay, short stature, and mildly impaired intellectual development. ","keywords":null},{"identifier":"Autoinflammation with arthritis and dyskeratosis.","acronym":"AIADK.","accession":"DI-04967","synonyms":null,"cross_references":"MeSH; D056660.","definition":"A disorder characterized by recurrent fever, diffuse skin dyskeratosis, autoinflammation, autoimmunity, arthritis and high transitional B-cell level. Inheritance can be autosomal dominant or autosomal recessive. ","keywords":null}]}