{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=3160&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=3120&ordering=-synonyms","results":[{"identifier":"Immunodeficiency 80 with or without congenital cardiomyopathy.","acronym":"IMD80.","accession":"DI-06100","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive immunologic disorder with variable manifestations including decreased B and T cells, reduced effector and memory T cells, NK cell deficiency, chronic cytomegalovirus infection. Restrictive cardiomyopathy and hypoplasia of the spleen and thymus have also been reported in some patients. ","keywords":null},{"identifier":"Immunodeficiency 81.","acronym":"IMD81.","accession":"DI-06140","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive disorder characterized by recurrent infections, including fungal infections, associated with T cell, neutrophil, and NK cell dysfunction. B cells may also show maturation abnormalities. Other features include autoimmune hemolytic anemia and abnormal platelet aggregation. ","keywords":null},{"identifier":"Immunodeficiency 82 with systemic inflammation.","acronym":"IMD82.","accession":"DI-06146","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal dominant immunologic disorder with onset in early childhood. It is characterized by recurrent infections with various organisms, and multi-organ inflammation that manifests as colitis, hepatitis, arthritis and dermatitis. Patients have a propensity for the development of lymphoma, usually in adulthood. Disease severity is variable. ","keywords":null},{"identifier":"Cutis laxa, autosomal dominant, 2.","acronym":"ADCL2.","accession":"DI-03317","synonyms":null,"cross_references":"MeSH; D003483.","definition":"A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. Additional variable clinical features are gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema. ","keywords":null},{"identifier":"Immunodeficiency 84.","acronym":"IMD84.","accession":"DI-06169","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive immunologic disorder characterized by recurrent sinopulmonary infections from childhood associated with low levels of B cells and impaired early B-cell development. There may also be variable T-cell abnormalities. Patients have increased susceptibility to infection with Epstein-Barr virus and a propensity for the development of lymphoma in adulthood. ","keywords":null},{"identifier":"Immunodeficiency 85.","acronym":"IMD85.","accession":"DI-06218","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal dominant immunologic disorder characterized by early- onset autoimmunity and features of combined immunodeficiency such as hypogammaglobulinemia and abnormal T-cell function. Clinical manifestations include atopic eczema and recurrent respiratory infections in the first decade of life, autoimmune enteropathy, growth failure, autoimmune oligoarthritis, interstitial pneumonitis, and EBV viremia. ","keywords":null},{"identifier":"Cardiomyopathy, dilated, 1M.","acronym":"CMD1M.","accession":"DI-00219","synonyms":null,"cross_references":"MeSH; D002311.","definition":"A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Immunodeficiency 87 and autoimmunity.","acronym":"IMD87.","accession":"DI-06246","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive disorder with onset in infancy or early childhood. It is characterized by increased susceptibility to infections, often Epstein-Barr virus, as well as lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. The disorder results primarily from defects in T-cell function. ","keywords":null},{"identifier":"Arthrogryposis, impaired intellectual development, and seizures.","acronym":"AMRS.","accession":"DI-03977","synonyms":null,"cross_references":"MeSH; D012640.","definition":"A disease characterized by arthrogryposis, intellectual disability, autism spectrum disorder, and epilepsy. Additional features include limb malformations, distal joint involvement, microcephaly, retromicrognathia, and general muscle hypotonia. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "},{"identifier":"Immunodeficiency 89 and autoimmunity.","acronym":"IMD89.","accession":"DI-06275","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive disorder characterized by adult onset of recurrent infections, allergies, microcytic anemia, and Crohn disease. ","keywords":null},{"identifier":"Cutis laxa, autosomal recessive, 1D.","acronym":"ARCL1D.","accession":"DI-06874","synonyms":null,"cross_references":"MeSH; D003483.","definition":"A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The clinical spectrum of autosomal recessive cutis laxa is highly heterogeneous with respect to organ involvement and severity. ARCL1D features include skin laxity, thin and translucent skin with easy bruising, facial dysmorphism, joint hypermobility, muscle hypotonia, and multiple severe herniations. Skin laxity may progress with age. ","keywords":null},{"identifier":"Immunodeficiency 91 and hyperinflammation.","acronym":"IMD91.","accession":"DI-06288","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive disorder characterized by immunodeficiency, recurrent infections, and hyperinflammation with systemic involvement. Most patients eventually develop hepatic or renal failure, may have compromised neurologic function, lymphadenopathy or hepatosplenomegaly. Early death often occurs due to multiorgan failure. ","keywords":null},{"identifier":"Immunodeficiency 92.","acronym":"IMD92.","accession":"DI-06291","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive disorder characterized by recurrent bacterial, viral, fungal, or parasitic infections appearing in infancy or early childhood. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets. ","keywords":null},{"identifier":"Immunodeficiency 93 and hypertrophic cardiomyopathy.","acronym":"IMD93.","accession":"DI-06317","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive disorder characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Immunodeficiency 94 with autoinflammation and dysmorphic facies.","acronym":"IMD94.","accession":"DI-06346","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal dominant disorder characterized by onset in early infancy, lymphadenopathy, autoinflammation, immunodeficiency with hypogammaglobulinemia, and dysmorphic facial features. ","keywords":null},{"identifier":"Immunodeficiency 95.","acronym":"IMD95.","accession":"DI-06358","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive disorder characterized by the onset of recurrent and severe viral respiratory infections in infancy or early childhood, and impaired interferon production during viral infection. ","keywords":null},{"identifier":"Immunodeficiency 96.","acronym":"IMD96.","accession":"DI-06359","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive disorder characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood. Other infections, including gastrointestinal and urinary tract infections, may also occur. Laboratory studies show hypogammaglobulinemia, lymphopenia with increased gamma/delta T cells, and erythrocyte macrocytosis. ","keywords":null},{"identifier":"Immunodeficiency 97 with autoinflammation.","acronym":"IMD97.","accession":"DI-06382","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive disorder with variable features. Affected individuals have childhood-onset antibody defects, cytopenias, and T lymphocytic pneumonitis and colitis. Some patients may have features of hemophagocytic lymphohistiocytosis. ","keywords":null},{"identifier":"Ablepharon-macrostomia syndrome.","acronym":"AMS.","accession":"DI-04542","synonyms":null,"cross_references":"MeSH; D008265.","definition":"A congenital ectodermal dysplasia characterized by absent eyelids, macrostomia, microtia, redundant skin, sparse hair, dysmorphic nose and ears, variable abnormalities of the nipples, genitalia, fingers, and hands, largely normal intellectual and motor development, and poor growth. ","keywords":"KW-0038:Ectodermal dysplasia.; "},{"identifier":"Visceral neuropathy, familial, 1, autosomal recessive.","acronym":"VSCN1.","accession":"DI-06181","synonyms":null,"cross_references":"MeSH; D009422.","definition":"An autosomal recessive disorder characterized by intestinal dysmotility due to aganglionosis (Hirschsprung disease), hypoganglionosis, and/or chronic intestinal pseudoobstruction. Additional variable features are progressive peripheral neuropathy, arthrogryposis, hypoplasia or aplasia of the olfactory bulb and of the external auditory canals, microtia or anotia, and facial dysmorphism. Some patients present structural cardiac anomalies and arthrogryposis with multiple pterygia. ","keywords":null}]}