{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=3700&ordering=-identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=3660&ordering=-identifier","results":[{"identifier":"Immunodeficiency 108 with autoinflammation.","acronym":"IMD108.","accession":"DI-06512","synonyms":"Pelger-Huet-like anomaly and episodic fever with abdominal pain.; ","cross_references":"MeSH; D007153.","definition":"An autosomal recessive disorder characterized by autoinflammation and immune impairment of neutrophils, manifesting around adolescence. Affected individuals have recurrent episodes of abdominal pain associated with fever and elevated inflammatory markers. Additional features include recurrent infections, particularly of the skin and nails, poor wound healing, and mild bleeding tendencies. ","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 106, susceptibility to viral infections.","acronym":"IMD106.","accession":"DI-06465","synonyms":"IFNAR1 deficiency.; ","cross_references":"MeSH; D007153.","definition":"An autosomal recessive immunologic disorder characterized by increased susceptibility to viral infections beginning in infancy or early childhood. IMD106 affected individuals may demonstrate adverse reactions to vaccination with live attenuated viral vaccines, most notably measles, mumps and rubella (MMR) and yellow fever vaccines. A subset of IMD106 patients develop severe reactions, including excessive hyperinflammatory response, encephalopathy, acute respiratory distress syndrome, and multiorgan failure. IMD106 may also predispose to severe respiratory infection with SARS-CoV-2. ","keywords":null},{"identifier":"Immunodeficiency 105.","acronym":"IMD105.","accession":"DI-06464","synonyms":"SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive.; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive.; ","cross_references":"MeSH; D007153.","definition":"An autosomal recessive disorder characterized by recurrent infections in early infancy, decreased or absent numbers of non-functional T cells, normal or increased levels of B cells, hypogammaglobulinemia, and normal or low NK cells. Clinical manifestations may include pneumonia, dermatitis, and lymphadenopathy. ","keywords":null},{"identifier":"Immunodeficiency 104.","acronym":"IMD104.","accession":"DI-01018","synonyms":"SCIDBNK.; Severe combined immunodeficiency autosomal recessive T cell-negative/B cell-positive/NK cell-positive.; Severe combined immunodeficiency autosomal recessive T-cell negative/B-cell positive/NK-cell positive.; ","cross_references":"MeSH; D016511.","definition":"A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. ","keywords":"KW-0705:SCID.; "},{"identifier":"Immunodeficiency 103, susceptibility to fungal infections.","acronym":"IMD103.","accession":"DI-02578","synonyms":"CANDF2.; Candidiasis, familial, 2.; CARD9 immunodeficiency.; Familial chronic mucocutaneous candidiasis autosomal recessive.; ","cross_references":"MeSH; D002178.","definition":"An autosomal recessive primary immunodeficiency disorder with altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans. ","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":"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 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia.","acronym":"IMD100.","accession":"DI-06438","synonyms":"PAPHG.; Pulmonary alveolar proteinosis with hypogammaglobulinemia.; ","cross_references":"MeSH; D011649.","definition":"An autosomal dominant disorder characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis in the first months of life. Disease development appears to be influenced or triggered by viral infection. Patients also have hypogammaglobulinemia, leukocytosis, and splenomegaly. ","keywords":null},{"identifier":"Immunodeficiency 10.","acronym":"IMD10.","accession":"DI-02551","synonyms":"Immune dysfunction with T-cell inactivation due to calcium entry defect 2.; STIM1 deficiency.; ","cross_references":"MeSH; D007153.","definition":"An immune disorder characterized by recurrent infections, impaired activation and proliferative response of T-cells, decreased T-cell production of cytokines, lymphadenopathy, and normal lymphocytes counts and serum immunoglobulin levels. Additional features include thrombocytopenia, autoimmune hemolytic anemia, myopathy, partial iris hypoplasia, hepatosplenomegaly and defective enamel dentition. ","keywords":null},{"identifier":"Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation.","acronym":"IDAIL.","accession":"DI-04302","synonyms":"ALPS5.; Autoimmune lymphoproliferative syndrome 5.; Autoimmune lymphoproliferative syndrome type V.; ","cross_references":"MeSH; D008232.","definition":"An autosomal dominant primary immunodeficiency characterized by severe autoimmunity, infiltration of non-lymphoid organs, such as the intestine, lungs and brain, by hyperactive T cells and B cells, autoimmune cytopenias, and hypogammaglobulinemia in early childhood. ","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":"Immune dysregulation and systemic hyperinflammation syndrome.","acronym":"IMDYSHI.","accession":"DI-05904","synonyms":"FHL6.; Hemophagocytic lymphohistiocytosis, familial, 6.; ","cross_references":"MeSH; D051359.","definition":"An autosomal recessive disorder characterized by systemic hyperinflammation in the absence of an infectious agent or autoimmune trigger. Features include lymphadenopathy, hepatosplenomegaly, recurrent fever, and laboratory evidence of immune dysregulation with abnormal immune cell populations and increased serum levels of inflammatory cytokines. ","keywords":null},{"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":"Imerslund-Grasbeck syndrome 2.","acronym":"IGS2.","accession":"DI-05840","synonyms":"Megaloblastic anemia, Norwegian type.; ","cross_references":"MeSH; D000749.","definition":"A form of Imerslund-Grasbeck syndrome, a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in infancy or early childhood. Clinical manifestations include failure to thrive, infections and neurological damage. Mild proteinuria, with no signs of kidney disease, is present in about half of the patients. ","keywords":null},{"identifier":"Imerslund-Grasbeck syndrome 1.","acronym":"IGS1.","accession":"DI-02246","synonyms":"Defect of enterocyte intrinsic factor receptor.; Enterocyte cobalamin malabsorption.; Megaloblastic anemia, Finnish type.; Megaloblastic anemia 1.; MGA1.; Pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin B12, with proteinuria.; ","cross_references":"MeSH; D000749.","definition":"A form of Imerslund-Grasbeck syndrome, a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in infancy or early childhood. Clinical manifestations include failure to thrive, infections and neurological damage. Mild proteinuria, with no signs of kidney disease, is present in about half of the patients. ","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":"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":"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":"IFAP syndrome 2.","acronym":"IFAP2.","accession":"DI-05917","synonyms":null,"cross_references":"MeSH; D020795.","definition":"An autosomal dominant form of IFAP syndrome, a disease characterized by a peculiar triad of follicular ichthyosis, total or subtotal atrichia, and photophobia of varying degree. IFAP2 patients manifest ichthyosis follicularis or follicular hyperkeratosis, hyperkeratotic plaques, sparse to no body hair, and photophobia with punctate corneal epithelial defects, corneal pannus, and complicated cataract. Ultrastructural hair analysis shows trichorrhexis nodosa. ","keywords":"KW-0977:Ichthyosis.; "}]}