{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5720&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5680&ordering=synonyms","results":[{"identifier":"Immunoglobulin A deficiency 2.","acronym":"IGAD2.","accession":"DI-01814","synonyms":null,"cross_references":"MedGen; C1836032.","definition":"Selective deficiency of immunoglobulin A (IGAD) is the most common form of primary immunodeficiency, with an incidence of approximately 1 in 600 individuals in the western world. Individuals with symptomatic IGAD often have deficiency of IgG subclasses or decreased antibody response to carbohydrate antigens such as pneumococcal polysaccharide vaccine. Individuals with IGAD also suffer from recurrent sinopulmonary and gastrointestinal infections and have an increased incidence of autoimmune disorders and of lymphoid and non-lymphoid malignancies. In vitro studies have suggested that some individuals with IGAD have impaired isotype class switching to IgA and others may have a post-switch defect. IGAD and CVID have been known to coexist in families. Some individuals initially present with IGAD1 and then develop CVID. These observations suggest that some cases of IGAD and CVID may have a common etiology. ","keywords":null},{"identifier":"Immunoskeletal dysplasia with neurodevelopmental abnormalities.","acronym":"ISDNA.","accession":"DI-04990","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal recessive disorder characterized by variable skeletal abnormalities and neurodevelopmental defects. Neurologic manifestations include intellectual disability and motor delay. Some patients manifest hypotonia and seizures. Skeletal features include disproportionate short stature, cervical malformations, epiphyseal and metaphyseal dysplasia, and rarely premature craniosynostosis with progressive microcephaly. Severe combined immunodeficiency with a complete absence of T cells is observed in some patients. ","keywords":"KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "},{"identifier":"Atrial septal defect 9.","acronym":"ASD9.","accession":"DI-03370","synonyms":null,"cross_references":"MeSH; D006344.","definition":"A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Some patients manifest tricuspid valve disease, pulmonary valve disease, and pulmonary artery hypertension. ","keywords":"KW-0976:Atrial septal defect.; "},{"identifier":"Impaired intellectual development, anterior maxillary protrusion, and strabismus.","acronym":"MRAMS.","accession":"DI-02951","synonyms":null,"cross_references":"MeSH; D008607.","definition":"A syndrome characterized by severe intellectual disability, strabismus and dysmorphic features such as anterior maxillary protrusion with vertical maxillary excess, open bite and prominent crowded teeth. Some patients may lack dysmorphic features and manifest temporal lobe epilepsy and psychosis. Esotropia and amblyopia are present in some individuals. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Atrial septal defect 8.","acronym":"ASD8.","accession":"DI-03333","synonyms":null,"cross_references":"MeSH; D006344.","definition":"A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. ","keywords":"KW-0976:Atrial septal defect.; "},{"identifier":"Atrial septal defect 6.","acronym":"ASD6.","accession":"DI-02498","synonyms":null,"cross_references":"MeSH; D006344.","definition":"A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. ","keywords":"KW-0976:Atrial septal defect.; "},{"identifier":"Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development.","acronym":"CASGID.","accession":"DI-05490","synonyms":null,"cross_references":"MeSH; D012873.","definition":"An autosomal dominant disease characterized by infantile-onset cataract, erythematic subcutaneous nodules, profound developmental delay, self-injurious behavior, and intracerebral glutamate excess. Histopathologic analysis of skin lesions show deep perivascular and periglandular lymphohistiocytic infiltrates and pronounced leukocytoclasia at the surface of the dermis, focal vacuolar alterations, hyperkeratosis, and parakeratosis of the epidermis. ","keywords":"KW-0898:Cataract.; "},{"identifier":"Infantile cerebellar-retinal degeneration.","acronym":"ICRD.","accession":"DI-03409","synonyms":null,"cross_references":"MeSH; D019636.","definition":"A severe autosomal recessive neurodegenerative disorder characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. Affected individuals show profound psychomotor retardation, with only some achieving rolling, sitting, or recognition of family. Brain MRI shows progressive cerebral and cerebellar degeneration. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Infantile liver failure syndrome 1.","acronym":"ILFS1.","accession":"DI-03895","synonyms":null,"cross_references":"MeSH; D017093.","definition":"A life-threatening disorder of hepatic function that manifests with acute liver failure in the first few months of life. Clinical features include anemia, renal tubulopathy, developmental delay, seizures, failure to thrive, and liver steatosis and fibrosis. ","keywords":null},{"identifier":"Infantile liver failure syndrome 2.","acronym":"ILFS2.","accession":"DI-04550","synonyms":null,"cross_references":"MeSH; D017093.","definition":"A form of infantile liver failure syndrome, a life-threatening disorder of hepatic function that manifests with acute liver failure in the first few months of life. Clinical features include anemia, renal tubulopathy, developmental delay, seizures, failure to thrive, and liver steatosis and fibrosis. ","keywords":null},{"identifier":"Infantile liver failure syndrome 3.","acronym":"ILFS3.","accession":"DI-05669","synonyms":null,"cross_references":"MeSH; D017093.","definition":"A form of infantile liver failure syndrome, a life-threatening disorder of hepatic function that manifests with acute liver failure in the first months or years of life. ILFS3 is an autosomal recessive form characterized by recurrent episodes of acute liver failure often triggered by infection or fever. Affected individuals also have skeletal anomalies of the vertebral bodies and femoral heads. ","keywords":null},{"identifier":"Infantile-onset ascending spastic paralysis.","acronym":"IAHSP.","accession":"DI-01823","synonyms":null,"cross_references":"MedGen; C2931441.","definition":"Characterized by progressive spasticity and weakness of limbs. ","keywords":null},{"identifier":"Infections, recurrent, associated with encephalopathy, hepatic dysfunction and cardiovascular malformations.","acronym":"IEHDCM.","accession":"DI-03003","synonyms":null,"cross_references":"MeSH; D007160.","definition":"A condition with biological features of autoimmune lymphoproliferative syndrome such as high-circulating CD4(-)CD8(-)TCR-alpha-beta(+) T-cell counts, and elevated IL10 and FASL levels. Affected individuals suffer from recurrent, stereotypical episodes of fever, encephalopathy, and mild liver dysfunction sometimes accompanied by generalized seizures. The episodes can be triggered by varicella zoster virus (VZV), measles mumps rubella (MMR) attenuated vaccine, parainfluenza virus, and Epstein-Barr virus (EBV). ","keywords":null},{"identifier":"Atrial septal defect 5.","acronym":"ASD5.","accession":"DI-02497","synonyms":null,"cross_references":"MeSH; D006344.","definition":"A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. ","keywords":"KW-0976:Atrial septal defect.; "},{"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},{"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 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 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 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, 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}]}