{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=3440&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=3400&ordering=synonyms","results":[{"identifier":"Myopathy, tubular aggregate, 1.","acronym":"TAM1.","accession":"DI-03765","synonyms":"TAM.; Tubular aggregate myopathy.; ","cross_references":"MeSH; D020914.","definition":"A rare congenital myopathy characterized by regular arrays of membrane tubules on muscle biopsies without additional histopathological hallmarks. Tubular aggregates in muscle are structures of variable appearance consisting of an outer tubule containing either one or more microtubule-like structures or amorphous material. They may occur in a variety of circumstances, including inherited myopathies, alcohol- and drug-induced myopathies, exercise-induced cramps or muscle weakness. ","keywords":null},{"identifier":"Ubiquitin-positive frontotemporal dementia.","acronym":"UP-FTD.","accession":"DI-02402","synonyms":"Tau-negative frontotemporal dementia linked to chromosome 17.; ","cross_references":"MedGen; C1843792.","definition":"Frontotemporal dementia (FTD) is the second most common cause of dementia in people under the age of 65 years. It is an autosomal dominant neurodegenerative disease. ","keywords":null},{"identifier":"Temple-Baraitser syndrome.","acronym":"TMBTS.","accession":"DI-04297","synonyms":"TBS.; ","cross_references":"MeSH; D017880.","definition":"A developmental disorder characterized by intellectual disability, epilepsy, hypoplasia or aplasia of the thumb and great toe nails, and broadening and/or elongation of the thumbs and halluces, which have a tubular aspect. Some patients show facial dysmorphism. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Transcobalamin II deficiency.","acronym":"TCN2D.","accession":"DI-02378","synonyms":"TC II deficiency.; TCN2 deficiency.; ","cross_references":"MeSH; D008661.","definition":"An autosomal recessive disorder manifesting in early infancy and characterized by failure to thrive, megaloblastic anemia, pancytopenia, and agammaglobulinemia. Additional features include methylmalonic aciduria, recurrent infections, vomiting and diarrhea. TCN2D may be accompanied by neurological complications, including psychomotor and mental developmental delay, if untreated. ","keywords":null},{"identifier":"Trichodentoosseous syndrome.","acronym":"TDO.","accession":"DI-02387","synonyms":"TDO syndrome.; ","cross_references":"MeSH; D019465.","definition":"An autosomal dominant disease characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of craniofacial morphology. ","keywords":null},{"identifier":"Familial male precocious puberty.","acronym":"FMPP.","accession":"DI-01592","synonyms":"Testotoxicosis.; ","cross_references":"MedGen; C2674612.","definition":"In FMPP the receptor is constitutively activated. ","keywords":null},{"identifier":"Hematuria, benign familial, 1.","acronym":"BFH1.","accession":"DI-01271","synonyms":"Thin basement membrane nephropathy.; Thin membrane nephropathy.; TMN.; ","cross_references":"MeSH; D006417.","definition":"An autosomal dominant condition characterized by non-progressive isolated microscopic hematuria that does not result in renal failure. It is characterized pathologically by thinning of the glomerular basement membrane. ","keywords":null},{"identifier":"Thyroid hormone metabolism, abnormal, 1.","acronym":"THMA1.","accession":"DI-00015","synonyms":"THMA.; Thyroid hormone metabolism, abnormal.; ","cross_references":"MeSH; D013959.","definition":"A disorder associated with a reduction in type II iodothyronine deiodinase activity. ","keywords":null},{"identifier":"Stormorken syndrome.","acronym":"STRMK.","accession":"DI-04155","synonyms":"Thrombocytopathy, asplenia, and miosis.; York platelet syndrome.; YPS.; ","cross_references":"MeSH; D020914.","definition":"A rare autosomal dominant disease characterized by mild bleeding tendency, thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. ","keywords":null},{"identifier":"Thrombocytopenia 2.","acronym":"THC2.","accession":"DI-01099","synonyms":"Thrombocytopenia, autosomal dominant, 2.; Thrombocytopenia autosomal dominant 2.; ","cross_references":"MeSH; D013921.","definition":"A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. ","keywords":null},{"identifier":"Thrombocytopenia 4.","acronym":"THC4.","accession":"DI-01100","synonyms":"Thrombocytopenia autosomal dominant 4.; ","cross_references":"MeSH; D013921.","definition":"A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. ","keywords":null},{"identifier":"Thrombocytopenia 5.","acronym":"THC5.","accession":"DI-04335","synonyms":"Thrombocytopenia, autosomal dominant, 5.; Thrombocytopenia 5 with increased susceptibility to malignancy.; ","cross_references":"MeSH; D013921.","definition":"A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC5 is an autosomal dominant disorder, associated with an increased susceptibility to the development of hematologic and solid malignancies. ","keywords":null},{"identifier":"Thrombocytopenia 6.","acronym":"THC6.","accession":"DI-04719","synonyms":"Thrombocytopenia, autosomal dominant, 6.; ","cross_references":"MeSH; D013921.","definition":"A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC6 is an autosomal dominant form. Affected individuals may also have bone abnormalities and an increased risk for myelofibrosis. ","keywords":null},{"identifier":"Thrombocytopenia 7.","acronym":"THC7.","accession":"DI-05994","synonyms":"Thrombocytopenia, autosomal dominant, 7.; ","cross_references":"MeSH; D013921.","definition":"A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC7 is an autosomal dominant form with highly variable severity, ranging from absence of bleeding symptoms to epistaxis or more severe bleeding episodes. ","keywords":null},{"identifier":"Thrombocytopenia 9.","acronym":"THC9.","accession":"DI-06745","synonyms":"Thrombocytopenia, autosomal dominant, 9.; ","cross_references":"MeSH; D013921.","definition":"A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC9 is an autosomal dominant form characterized by low platelet counts in the absence of significant bleeding tendency. Some individuals may have mild mucocutaneous bleeding, whereas others may be asymptomatic. ","keywords":null},{"identifier":"Thrombocytopenia 10.","acronym":"THC10.","accession":"DI-06750","synonyms":"Thrombocytopenia, autosomal recessive, 10.; ","cross_references":"MeSH; D013921.","definition":"A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC10 is an autosomal recessive form characterized by decreased numbers of platelets apparent from birth or early childhood. ","keywords":null},{"identifier":"Thrombocytopenia 13, syndromic.","acronym":"THC13.","accession":"DI-06880","synonyms":"Thrombocytopenia, autosomal recessive, 13.; ","cross_references":"MeSH; D013921.","definition":"An autosomal recessive form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC13 patients have enlarged, gray platelets with defective function. Some affected individuals have leukopenia or anemia and pancytopenia. Additional variable features include mitral valve malformations, pyloric stenosis, and impaired intellectual development. ","keywords":null},{"identifier":"Thrombocytopenia with beta-thalassemia, X-linked.","acronym":"XLTT.","accession":"DI-02461","synonyms":"Thrombocytopenia platelet dysfunction hemolysis and imbalanced globin synthesis.; ","cross_references":"MeSH; D017086.","definition":"An unusual form of thrombocytopenia associated with beta-thalassemia. Patients have splenomegaly and petechiae, moderate thrombocytopenia, prolonged bleeding time due to platelet dysfunction, reticulocytosis and unbalanced (hemo)globin chain synthesis resembling that of beta- thalassemia minor. ","keywords":null},{"identifier":"Thrombocytopenia 1.","acronym":"THC1.","accession":"DI-01098","synonyms":"Thrombocytopenia X-linked.; Thrombocytopenia X-linked 1.; XLT.; ","cross_references":"MeSH; D013921.","definition":"A form of thrombocytopenia, a hematologic disorder defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. ","keywords":null},{"identifier":"Thrombocythemia 2.","acronym":"THCYT2.","accession":"DI-03401","synonyms":"Thrombocytosis 2.; ","cross_references":"MeSH; D013920.","definition":"A myeloproliferative disorder characterized by excessive platelet production, resulting in increased numbers of circulating platelets. It can be associated with spontaneous hemorrhages and thrombotic episodes. ","keywords":null}]}