{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=3520&ordering=-identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=3480&ordering=-identifier","results":[{"identifier":"Intellectual developmental disorder and retinitis pigmentosa.","acronym":"IDDRP.","accession":"DI-05391","synonyms":null,"cross_references":"MeSH; D012174.","definition":"An autosomal recessive disease characterized by mild to moderate intellectual disability, retinitis pigmentosa, and attention deficit- hyperactivity disorder observed in some patients. ","keywords":"KW-0682:Retinitis pigmentosa.; KW-0991:Intellectual disability.; "},{"identifier":"Insulin-resistant diabetes mellitus with acanthosis nigricans type A.","acronym":"IRAN type A.","accession":"DI-01828","synonyms":null,"cross_references":"MedGen; C0342278.","definition":"Characterized by the association of severe insulin resistance (manifested by marked hyperinsulinemia and a failure to respond to exogenous insulin) with the skin lesion acanthosis nigricans and ovarian hyperandrogenism in adolescent female subjects. Women frequently present with hirsutism, acne, amenorrhea or oligomenorrhea, and virilization. This syndrome is different from the type B that has been demonstrated to be secondary to the presence of circulating autoantibodies against the insulin receptor. ","keywords":null},{"identifier":"Insulinomatosis and diabetes mellitus.","acronym":"INSDM.","accession":"DI-05201","synonyms":"Islet cell adenomatosis.; ","cross_references":"MeSH; D007516.","definition":"An autosomal dominant disorder characterized by the occurrence of multicentric insulinomas, hyperinsulinemic hypoglycemia, non insulin- dependent diabetes mellitus, and impaired glucose tolerance. Some patients also exhibit congenital cataract and/or congenital glaucoma. ","keywords":"KW-0219:Diabetes mellitus.; "},{"identifier":"Insulin-like growth factor I deficiency.","acronym":"IGF1D.","accession":"DI-01827","synonyms":"Growth retardation with sensorineural deafness and mental retardation.; IGF1 deficiency.; ","cross_references":"MeSH; D006130.","definition":"An autosomal recessive disorder characterized by growth retardation, sensorineural deafness and intellectual disability. ","keywords":"KW-0209:Deafness.; KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "},{"identifier":"Insulin-like growth factor 1 resistance.","acronym":"IGF1RES.","accession":"DI-02747","synonyms":"End-organ insensitivity to somatomedin.; IGF1 resistance.; Resistance to insulin-like growth factor I.; Resistance to somatomedin-C.; ","cross_references":"MeSH; D006130.","definition":"A disorder characterized by intrauterine growth retardation, poor postnatal growth and increased plasma IGF1 levels. ","keywords":null},{"identifier":"Inosine triphosphate pyrophosphohydrolase deficiency.","acronym":"ITPAD.","accession":"DI-01825","synonyms":null,"cross_references":"MeSH; D008661.","definition":"A common inherited condition characterized by the abnormal accumulation of inosine triphosphate in erythrocytes. It might have pharmacogenomic implications and be related to increased drug toxicity of purine analog drugs. ","keywords":null},{"identifier":"Inflammatory skin and bowel disease, neonatal, 2.","acronym":"NISBD2.","accession":"DI-04271","synonyms":null,"cross_references":"MeSH; D015212.","definition":"A disorder characterized by inflammatory features with neonatal onset, involving the skin, hair, and gut. The skin lesions involve perioral and perianal erythema, psoriasiform erythroderma, with flares of erythema, scaling, and widespread pustules. Gastrointestinal symptoms include malabsorptive diarrhea that is exacerbated by intercurrent gastrointestinal infections. The hair is short or broken, and the eyelashes and eyebrows are wiry and disorganized. ","keywords":null},{"identifier":"Inflammatory skin and bowel disease, neonatal, 1.","acronym":"NISBD1.","accession":"DI-03306","synonyms":null,"cross_references":"MeSH; D015212.","definition":"A disorder characterized by inflammatory features with neonatal onset, involving the skin, hair, and gut. The skin lesions involve perioral and perianal erythema, psoriasiform erythroderma, with flares of erythema, scaling, and widespread pustules. Gastrointestinal symptoms include malabsorptive diarrhea that is exacerbated by intercurrent gastrointestinal infections. The hair is short or broken, and the eyelashes and eyebrows are wiry and disorganized. ","keywords":null},{"identifier":"Inflammatory poikiloderma with hair abnormalities and acral keratoses.","acronym":"IPHAK.","accession":"DI-06592","synonyms":null,"cross_references":"MeSH; D012871.","definition":"An autosomal recessive disorder characterized by mottled hyper- and hypopigmentation of the skin, sparse scalp hair and eyelashes, sparse or absent eyebrows, and palmoplantar keratoses. ","keywords":null},{"identifier":"Inflammatory demyelinating polyneuropathy.","acronym":"IDP.","accession":"DI-01824","synonyms":null,"cross_references":"MedGen; C1841700.","definition":"Putative autoimmune disorder presenting in an acute (AIDP) or chronic form (CIDP). The acute form is also known as Guillain-Barre syndrome. ","keywords":null},{"identifier":"Inflammatory bowel disease, immunodeficiency, and encephalopathy.","acronym":"IBDIMDE.","accession":"DI-05431","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive disorder characterized by severe infantile inflammatory bowel disease manifesting as bloody diarrhea and failure to thrive, global developmental delay, epilepsy, brain atrophy and encephalopathy. Affected individuals suffer from recurrent infections associated with impaired T-cell response to stimulation and decreased T-cell subsets, including regulatory and helper T cells. ","keywords":null},{"identifier":"Inflammatory bowel disease 31, autosomal recessive.","acronym":"IBD31.","accession":"DI-06149","synonyms":"Inflammatory bowel disease, early-onset, autosomal recessive.; Inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive.; ","cross_references":"MeSH; D015212.","definition":"A form of inflammatory bowel disease, a chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology and a multifactorial inheritance pattern. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. IBD31 patients suffer from infantile ulcerative colitis and present with recurrent bloody diarrhea with anemia and leukocytosis, extensive lymphoplasmocytic infiltration, cryptitis, and apoptotic crypt abcesses throughout the colon and rectum. ","keywords":null},{"identifier":"Inflammatory bowel disease 30.","acronym":"IBD30.","accession":"DI-05954","synonyms":null,"cross_references":"MeSH; D015212.","definition":"A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology and a multifactorial inheritance pattern. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. ","keywords":null},{"identifier":"Inflammatory bowel disease 29.","acronym":"IBD29.","accession":"DI-05306","synonyms":null,"cross_references":"MeSH; D015212.","definition":"A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. ","keywords":null},{"identifier":"Inflammatory bowel disease 28, autosomal recessive.","acronym":"IBD28.","accession":"DI-02674","synonyms":"Early-onset autosomal recessive inflammatory bowel disease.; ","cross_references":"MeSH; D015212.","definition":"A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. ","keywords":null},{"identifier":"Inflammatory bowel disease 25, autosomal recessive.","acronym":"IBD25.","accession":"DI-02673","synonyms":"Early-onset autosomal recessive inflammatory bowel disease.; ","cross_references":"MeSH; D015212.","definition":"A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. ","keywords":null},{"identifier":"Inflammatory bowel disease 19.","acronym":"IBD19.","accession":"DI-03080","synonyms":"Inflammatory bowel disease (Crohn disease) 19.; ","cross_references":"MeSH; D015212.","definition":"A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. ","keywords":null},{"identifier":"Inflammatory bowel disease 17.","acronym":"IBD17.","accession":"DI-02655","synonyms":null,"cross_references":"MeSH; D015212.","definition":"A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. ","keywords":null},{"identifier":"Inflammatory bowel disease 14.","acronym":"IBD14.","accession":"DI-02656","synonyms":null,"cross_references":"MeSH; D015212.","definition":"A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. ","keywords":null},{"identifier":"Inflammatory bowel disease 13.","acronym":"IBD13.","accession":"DI-02657","synonyms":null,"cross_references":"MeSH; D015212.","definition":"A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. ","keywords":null}]}